Looking back at 10 years of publication of human gene map

10 years ago, humanity has established a map of human gene structure. However, so far, human genes still have many unexplored mysteries.

Ten years ago, two rival research groups published an official report on the sequence of human genomes, the event that has opened up a new era in human biology and medicine. 10-year anniversary, experts summarize the lessons that scientific achievements have brought.

Need to rethink who we are

"We have not only evolved from primates or mammals; every life that started on Earth has left an archaeological trace in our DNA sequence." , Ronald Cole - Turner said, "It shows our deep attachment to life history on Earth."

Human Genome Map Project

Since the human genome map has been described, we know more about our history and the link is overshadowed between us and other species. For example, comparing the ancient Neanderthal genome sequence shows that 1 - 4% of modern human DNA is similar to the Neanderthal people, so it is possible that they mate with our ancestors. Even the human genome has amazing similarities with the genome of an ancient amphibian - the African claw frog.

Not yet an era of genetic medicine

The genetic map promises to bring about a revolution in medicine. In many cases, this happened - the leader of the National Institutes of Health, Francis Collins gave an example. Analysis of the genome of a 6-year-old boy in Wisconsin suffering from ulcerative colitis helps Collins's team detect a mutation related to a serious blood disorder, so that the disease is successfully treated by transplantation. bone marrow.

However, Craig Venter, a scientist from the National Institutes of Health but has a opposing viewpoint - draws a less brighter picture when he thinks it has to go a long way to genetically mapping. again useful information, not luck in some cases.

Humanity is still not fully aware of the human genome

The time and cost of making a personal gene map has decreased significantly. A government research group used only about $ 3 billion from 1990 to 2003 to map genes and conduct related studies, while Venter's group used to cost $ 100 million. Now, the cost of completing a genetic map is US $ 10,000. However, Venter "was disappointed because there was hardly any significant scientific progress over the past decade in studying genetic structure" ; that is, compared to 10 years ago, we have not yet obtained much information from the genetic map and cannot yet use it as a diagnostic tool.

Therefore, according to Venter not only need to improve the quality and accuracy of gene mapping, but also increase the ability to interpret gene map information; Not only does it touch the basic effects of gene risk for certain diseases, but also genes are resistant to disease.

'Dark matter' inside us

If in genome, "matter" is what plays the role of protein coding only 2%, then the remaining 98% is considered "garbage" according to the classical dogma of DNA. Today, for scientists, they are the mysterious "dark matter" that has not been fully explained. Instead of directly coding for proteins, it may play a role in regulating gene expression.

"We know about the existence of" dark matter "but need to explore its effects," said Robert Plomin, Professor of Psychiatry at the University of London .

Some genes are less influential than we think

When referring to disease, genes are divided into two groups. Single gene types can have a profound effect on a disease such as anemia due to sickle cell red cells or cirrhosis. However, in most cases, the gene has only a certain effect and contributes a small part to the transformation within the population it is present in.

Robert Plomin said, "We now have tools to identify genes, but it will be difficult and long-term to find all genes responsible for genetics." For example, changes in the FTO gene may be related to obesity but this "fat gene" only "contributes" 1% to the variation of body weight index. In contrast, genetic mutations in two tumor-suppressing genes are associated with only 5 to 10% of breast cancers in American white women.

The Human Genome Project (HGP) is an international scientific research project. The main purpose of the project is to determine the sequence of base pairs that form the DNA molecule and identify about 25,000 genes in the human genome.

The project started in 1990 with the leadership of James D. Watson and then Francis Collins. The first draft of the genome was released in 2000 and completed in 2003. While the main purpose of the project is to understand the genetic composition of humans, the project is also focused. into other organisms such as Escherichia coli, fruit fly, and laboratory mice.

The $ 3 billion project fund was established in 1990 by the US Department of Energy and the US National Institutes of Health and Charities in the UK, organizing the Wellcome Trust to sponsor the Sanger Institute (which later became the Center). Sanger) in the United Kingdom, as well as many other groups around the world. However, the $ 3 billion figure refers to the estimated total budget for a 13-year period (1990-2003) for a variety of gene-related scientific activities. They include studies of human and experimental organisms (such as bacteria, fungi, worms, flies, and mice); Develop new technologies for biological and medical research, calculation methods for genome analysis, and ethical, legal, and social issues related to genetics. The human genome sequence accounts for only a small part of the total budget.

The Collins group was sequenced to the human genome in late 2003.

At the beginning of the project, a parallel project was also carried out by a private company named Celera Genomics. In the private company Celera Genomics project, DNA from five different individuals was studied. The head of the company at the time, Craig Venter, later admitted (in a letter to Science magazine) that his DNA was also in it.

(According to Wikipedia and other documents)